Congenital myopathy

Gene: MT-TG

I don't know

Comment on list classification: There are two unrelated patients reported with m.10010T>C variant and with myopathy as part of the presenting phenotype. Hence, this gene is rated amber.

Created: 27 Jun 2025, 6:15 p.m. | Last Modified: 27 Jun 2025, 6:15 p.m.

Panel Version: 6.25

PMID:11971101 - A 42-year-old woman presented with myopathy and MERRF and with heteroplasmic m.10010T>C variant in MT-TG gene. The full-text of this publication is not accessible to me. MitoPhen (https://www.mitophen.org) recorded the estimated age of onset as five. However, I am not able to find the age of onset of muscle weakness/ myopathy.

PMID:16120360 - Two different heteroplasmic mitochondrial variants were identified in two different patients, of which one of them had m.10010T>C variant, while the other had m.4298G>A variant (MT-TA gene). The patient with m.10010T>C variant is a 22-year-old male presenting with myalgias, muscle cramps, limb weakness, lower limb neuropathy and hypothyroidism. This patient dies at 26 years of age.

Created: 27 Jun 2025, 6:12 p.m. | Last Modified: 27 Jun 2025, 6:12 p.m.

Panel Version: 6.22

Mode of inheritance
MITOCHONDRIAL

Phenotypes
mitochondrial encephalomyopathy, MONDO:0004675

Publications

• 11971101
• 16120360

Green List (high evidence)

The m.10010T>C pathogenic variant in MT-TG has been reported in a patient with mitochondrial myopathy and in patients with myopathy as part of a multisystem disorder.

Created: 24 Jun 2025, 10:53 a.m. | Last Modified: 24 Jun 2025, 10:53 a.m.

Panel Version: 6.10

Mode of inheritance
MITOCHONDRIAL

Publications

• 16120360
• 11971101

Mode of pathogenicity
Other